MPS3D
MCID: MCP046
MIFTS: 50

Mucopolysaccharidosis, Type Iiid (MPS3D)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidosis, Type Iiid

MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiid:

Name: Mucopolysaccharidosis, Type Iiid 57 39
Mucopolysaccharidosis Type Iiid 57 12 20 58 73 13 15
Mps Iiid 57 12 20 73 54
Mps3d 57 12 20 58 73
N-Acetylglucosamine-6-Sulfatase Deficiency 57 12 73 6
Mucopolysaccharidosis Type 3d 12 20 58
Sanfilippo Syndrome Type D 12 20 58
Sanfilippo Syndrome D 57 12 20
Gns Deficiency 12 20 58
Glucosamine N-Acetyl-6-Sulfatase Deficiency 20 58
Mpsiiid 20 58
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency 20
Mucopoly-Saccharidosis Type 3d 20
Mucopolysaccharidosis 3d 73
Sanfilippo D Syndrome 73
Mps Iii-D 74
Mps Iii D 71
Mps 3d 20

Characteristics:

Orphanet epidemiological data:

58
sanfilippo syndrome type d
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
four clinically indistinguishable biochemically distinct forms (see )


HPO:

31
mucopolysaccharidosis, type iiid:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mucopolysaccharidosis, Type Iiid

GARD : 20 Mucopolysaccharidosis type IIID (MPS IIID) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIID is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase. MPS IIID is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIID live into their teenage years, and some live longer.

MalaCards based summary : Mucopolysaccharidosis, Type Iiid, also known as mucopolysaccharidosis type iiid, is related to mucopolysaccharidoses and mucopolysaccharidosis iii, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis, Type Iiid is GNS (Glucosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include eye and spinal cord, and related phenotypes are intellectual disability and frontal bossing

Disease Ontology : 12 A mucopolysaccharidosis III that has material basis in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.

OMIM® : 57 The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003). (252940) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Mucopolysaccharidosis 3D: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

Wikipedia : 74 Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal... more...

Related Diseases for Mucopolysaccharidosis, Type Iiid

Diseases in the Mucopolysaccharidosis-Plus Syndrome family:

Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib
Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid
Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb
Mucopolysaccharidosis, Type Vi Mucopolysaccharidosis, Type Vii
Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Ix
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv

Diseases related to Mucopolysaccharidosis, Type Iiid via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidoses 30.0 SGSH NAGLU IDUA HGSNAT
2 mucopolysaccharidosis iii 29.3 SUMF1 SIMC1 SGSH NAGLU IDUA IDS
3 lysosomal storage disease 27.9 SUMF1 SGSH NAGLU IDUA IDS HYAL1
4 mucopolysaccharidosis-plus syndrome 27.9 SUMF1 SGSH NAGLU IDUA IDS HYAL1
5 mongolian spot 10.1 NAGLU IDUA
6 mannosidosis, alpha b, lysosomal 10.1 SGSH IDUA
7 dysphagia 10.1
8 kluver-bucy syndrome 10.0 SGSH NAGLU HGSNAT
9 mucopolysaccharidosis, type ix 10.0 HYAL1 HGSNAT
10 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 10.0 IDUA ARSG
11 nephrolithiasis, calcium oxalate 9.9 NAGLU IDUA
12 ceroid lipofuscinosis, neuronal, 3 9.9 SUMF1 SGSH NAGLU
13 nerve compression syndrome 9.8 IDUA IDS
14 krabbe disease 9.8 SGSH IDUA IDS
15 tay-sachs disease 9.8 SGSH IDUA IDS
16 galactosialidosis 9.8 IDUA GALNS
17 hurler-scheie syndrome 9.8 SUMF1 SGSH NAGLU IDUA
18 mucolipidosis ii alpha/beta 9.7 IDUA GALNS
19 sphingolipidosis 9.7 SUMF1 IDUA
20 fucosidosis 9.7 NAGLU IDUA GALNS
21 gm1 gangliosidosis 9.7 SGSH IDUA GALNS
22 multiple sulfatase deficiency 9.7 SUMF1 GNS GALNS
23 metachromatic leukodystrophy 9.6 SUMF1 SGSH IDUA IDS
24 hurler syndrome 9.1 SUMF1 NAGLU IDUA IDS GALNS
25 mucopolysaccharidosis, type vii 8.9 SGSH NAGLU IDUA IDS HGSNAT GNS
26 mucopolysaccharidosis, type ivb 8.9 SGSH NAGLU IDUA IDS HGSNAT GNS
27 mucopolysaccharidosis, type vi 8.9 SUMF1 NAGLU IDUA IDS HGSNAT GNS
28 mucopolysaccharidosis iv 8.9 SUMF1 SGSH NAGLU IDUA IDS GNS
29 mucopolysaccharidosis, type iva 8.9 SUMF1 SGSH NAGLU IDUA IDS GNS
30 scheie syndrome 8.7 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
31 mucopolysaccharidosis, type ii 8.7 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
32 mucopolysaccharidosis, type iiib 8.7 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
33 mucopolysaccharidosis, type iiic 8.5 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
34 mucopolysaccharidosis, type iiia 8.5 SUMF1 SGSH NAGLU IDUA IDS HGSNAT

Graphical network of the top 20 diseases related to Mucopolysaccharidosis, Type Iiid:



Diseases related to Mucopolysaccharidosis, Type Iiid

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iiid

Human phenotypes related to Mucopolysaccharidosis, Type Iiid:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 frontal bossing 31 HP:0002007
3 sleep disturbance 31 HP:0002360
4 dysarthria 31 HP:0001260
5 dysphagia 31 HP:0002015
6 short neck 31 HP:0000470
7 coarse facial features 31 HP:0000280
8 hearing impairment 31 HP:0000365
9 splenomegaly 31 HP:0001744
10 hepatomegaly 31 HP:0002240
11 depressed nasal bridge 31 HP:0005280
12 joint stiffness 31 HP:0001387
13 anteverted nares 31 HP:0000463
14 thick eyebrow 31 HP:0000574
15 coarse hair 31 HP:0002208
16 flexion contracture 31 HP:0001371
17 dysostosis multiplex 31 HP:0000943
18 prominent forehead 31 HP:0011220
19 thick lower lip vermilion 31 HP:0000179
20 recurrent upper respiratory tract infections 31 HP:0002788
21 absent speech 31 HP:0001344
22 low-set ears 31 HP:0000369
23 wide mouth 31 HP:0000154
24 synophrys 31 HP:0000664
25 diarrhea 31 HP:0002014
26 heparan sulfate excretion in urine 31 HP:0002159
27 hirsutism 31 HP:0001007
28 hyperactivity 31 HP:0000752
29 drooling 31 HP:0002307
30 ovoid thoracolumbar vertebrae 31 HP:0003309
31 thickened ribs 31 HP:0000900
32 growth abnormality 31 HP:0001507
33 seizure 31 HP:0001250
34 asymmetric septal hypertrophy 31 HP:0001670
35 cellular metachromasia 31 HP:0003653

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
dysarthria
hyperactivity
mental retardation
slowing mental development by 1.5 to 3 years of age
more
Head And Neck Neck:
short neck

Head And Neck Nose:
anteverted nares
flat nasal bridge

Head And Neck Ears:
low-set ears
hearing loss

Head And Neck Eyes:
synophrys
decreased vision
clear corneas

Skeletal Spine:
ovoid thoracolumbar vertebrae

Skeletal:
joint contractures
dysotosis multiplex, mild

Chest Ribs Sternum Clavicles And Scapulae:
thick ribs

Abdomen Liver:
hepatomegaly, mild

Skeletal Limbs:
joint stiffness, mild

Abdomen Gastrointestinal:
dysphagia
diarrhea
drooling

Head And Neck Face:
coarse facial features
prominent forehead

Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism
thick eyebrows

Head And Neck Mouth:
wide mouth
drooling
thick lips

Laboratory Abnormalities:
heparan sulfate excretion in urine
metachromasia of white blood cells and fibroblasts
n-acetylglucosamine-6-sulfate sulfatase deficiency

Cardiovascular Heart:
asymmetric septal hypertrophy

Growth Height:
normal stature

Respiratory Nasopharynx:
frequent upper respiratory tract infections

Abdomen Spleen:
splenomegaly, mild

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems, severe, beginning at 3 to 4 years of age

Clinical features from OMIM®:

252940 (Updated 05-Mar-2021)

UMLS symptoms related to Mucopolysaccharidosis, Type Iiid:


seizures, joint stiffness, diarrhea

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Iiid:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 ARSG GALNS GNS HGSNAT IDS IDUA
2 behavior/neurological MP:0005386 10.11 ARSG GNS HGSNAT IDS IDUA NAGLU
3 immune system MP:0005387 10.06 ARSG GNS HGSNAT HYAL1 IDS IDUA
4 cardiovascular system MP:0005385 10.04 ARSG CENPO HGSNAT IDUA NAGLU SGSH
5 hematopoietic system MP:0005397 10.03 ARSG GNS HGSNAT IDS IDUA NAGLU
6 liver/biliary system MP:0005370 9.92 ARSG HGSNAT HYAL1 IDS IDUA NAGLU
7 nervous system MP:0003631 9.86 ARSG GNS HGSNAT IDS IDUA NAGLU
8 craniofacial MP:0005382 9.85 IDS IDUA NAGLU SGSH SUMF1
9 limbs/digits/tail MP:0005371 9.77 HGSNAT IDS IDUA SGSH SUMF1
10 renal/urinary system MP:0005367 9.7 ARSG GALNS HGSNAT IDS IDUA NAGLU
11 skeleton MP:0005390 9.56 GALNS HGSNAT HYAL1 IDS IDUA NAGLU
12 vision/eye MP:0005391 9.1 ARSG GALNS IDS IDUA NAGLU SGSH

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iiid

Search Clinical Trials , NIH Clinical Center for Mucopolysaccharidosis, Type Iiid

Genetic Tests for Mucopolysaccharidosis, Type Iiid

Anatomical Context for Mucopolysaccharidosis, Type Iiid

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiid:

40
Eye, Spinal Cord

Publications for Mucopolysaccharidosis, Type Iiid

Articles related to Mucopolysaccharidosis, Type Iiid:

(show all 28)
# Title Authors PMID Year
1
A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. 54 6 57 61
19650410 2009
2
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. 57 6 54 61
17998446 2007
3
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. 57 6 54 61
12573255 2003
4
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. 57 61 6
12624138 2003
5
Sanfilippo syndrome type D. 57 6
3100754 1987
6
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. 57 6
6450420 1980
7
N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID). 57
1434515 1992
8
Sanfilippo syndrome type D in two adolescent sisters. 57
1908010 1991
9
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. 57
6411475 1983
10
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. 57
6807676 1982
11
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. 54 61
20232353 2010
12
Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-N-Acetylglucosamine-6-Sulfatase in Neonatal Mice. 61
33320673 2021
13
Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID. 61
28334745 2017
14
Diagnosis of caprine mucopolysaccharidosis type IIID by real-time polymerase chain reaction-based genotyping. 61
20622237 2010
15
Metabolic studies of glycosphingolipid accumulation in mucopolysaccharidosis IIID. 61
11243730 2001
16
Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy. 61
11303788 2000
17
Recombinant caprine 3H-[N-acetylglucosamine-6-sulfatase] and human 3H-[N-acetylgalactosamine-4-sulfatase]: plasma clearance, tissue distribution, and cellular uptake in the rat. 54
10344792 1998
18
Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics. 54
9600207 1998
19
Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase. 61
9355739 1997
20
A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases. 61
1463457 1992
21
Sanfilippo D syndrome: correction of glucosamine-6-sulphatase deficiency following fibroblast culture in Chang's media. 61
1788178 1991
22
Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate. 61
2500866 1989
23
Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase. 61
3196333 1988
24
Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14. 61
3391615 1988
25
Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses. 61
3931626 1985
26
Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase. 61
6428270 1984
27
Isolation and characterization of N-acetylglucosamine 6-sulfate from the urine of a patient with Sanfilippo type D syndrome and its occurrence in normal urine. 61
6435628 1983
28
N-acetylglucosamine 6-sulfate residues in keratan sulfate and heparan sulfate are desulfated by the same enzyme. 61
6236815 1983

Variations for Mucopolysaccharidosis, Type Iiid

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiid:

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNS NM_002076.4(GNS):c.1063C>T (p.Arg355Ter) SNV Pathogenic 2932 rs119461974 12:65130819-65130819 12:64737039-64737039
2 GNS NM_002076.4(GNS):c.1169del (p.Gln390fs) Deletion Pathogenic 2933 rs483352898 12:65122767-65122767 12:64728987-64728987
3 GNS NM_002076.4(GNS):c.1168C>T (p.Gln390Ter) SNV Pathogenic 2934 rs119461975 12:65122768-65122768 12:64728988-64728988
4 GNS NC_000012.12:g.(?_64739371)_(64747928_?)del Deletion Pathogenic 831424 12:65133151-65141708
5 GNS NM_002076.4(GNS):c.814C>T (p.Gln272Ter) SNV Pathogenic 638094 rs1365770233 12:65134447-65134447 12:64740667-64740667
6 GNS NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs) Insertion Pathogenic 2935 rs483352899 12:65122797-65122798 12:64729017-64729018
7 GNS NM_002076.4(GNS):c.1226dup (p.Ser410fs) Duplication Pathogenic 2936 rs483352900 12:65116867-65116868 12:64723087-64723088
8 GNS NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer) Deletion Pathogenic 960791 12:65122737-65122737 12:64728957-64728957
9 GNS NM_002076.4(GNS):c.1308+2T>C SNV Likely pathogenic 842217 12:65116784-65116784 12:64723004-64723004
10 GNS NC_000012.12:g.(?_64716721)_(64723133_?)del Deletion Likely pathogenic 832892 12:65110501-65116913
11 GNS NM_002076.4(GNS):c.1434C>G (p.Val478=) SNV Conflicting interpretations of pathogenicity 310206 rs141958901 12:65113948-65113948 12:64720168-64720168
12 GNS NM_002076.4(GNS):c.285A>G (p.Arg95=) SNV Conflicting interpretations of pathogenicity 310211 rs545765198 12:65141666-65141666 12:64747886-64747886
13 GNS NM_002076.4(GNS):c.624+10A>G SNV Conflicting interpretations of pathogenicity 310208 rs757526895 12:65138579-65138579 12:64744799-64744799
14 GNS NM_002076.4(GNS):c.4C>T (p.Arg2Trp) SNV Conflicting interpretations of pathogenicity 193221 rs200441930 12:65153053-65153053 12:64759273-64759273
15 GNS NM_002076.4(GNS):c.577C>T (p.Arg193Trp) SNV Conflicting interpretations of pathogenicity 724833 rs144220755 12:65138636-65138636 12:64744856-64744856
16 GNS NM_002076.4(GNS):c.682A>G (p.Met228Val) SNV Uncertain significance 645181 rs1338194520 12:65137031-65137031 12:64743251-64743251
17 GNS NM_002076.4(GNS):c.1309-6C>G SNV Uncertain significance 662642 rs1592491918 12:65115491-65115491 12:64721711-64721711
18 GNS NM_002076.4(GNS):c.*574G>A SNV Uncertain significance 310194 rs886049770 12:65109947-65109947 12:64716167-64716167
19 MOK NM_014226.3(MOK):c.630_631dup (p.Ile211fs) Duplication Uncertain significance 587554 rs769431982 14:102700085-102700086 14:102233748-102233749
20 GNS NM_002076.4(GNS):c.746A>C (p.Gln249Pro) SNV Uncertain significance 975969 12:65136967-65136967 12:64743187-64743187
21 GNS NM_002076.4(GNS):c.5G>C (p.Arg2Pro) SNV Uncertain significance 883408 12:65153052-65153052 12:64759272-64759272
22 GNS NM_002076.4(GNS):c.117G>T (p.Gly39=) SNV Uncertain significance 943917 12:65152940-65152940 12:64759160-64759160
23 GNS NM_002076.4(GNS):c.876-3C>T SNV Uncertain significance 966660 12:65133282-65133282 12:64739502-64739502
24 GNS NM_002076.4(GNS):c.688G>A (p.Ala230Thr) SNV Uncertain significance 579944 rs140270805 12:65137025-65137025 12:64743245-64743245
25 GNS NM_002076.4(GNS):c.968A>G (p.Tyr323Cys) SNV Uncertain significance 850328 12:65133187-65133187 12:64739407-64739407
26 GNS NM_002076.4(GNS):c.791C>T (p.Thr264Met) SNV Uncertain significance 836831 12:65136922-65136922 12:64743142-64743142
27 GNS NM_002076.4(GNS):c.*1977A>G SNV Uncertain significance 880955 12:65108544-65108544 12:64714764-64714764
28 GNS NM_002076.4(GNS):c.*1809T>C SNV Uncertain significance 880956 12:65108712-65108712 12:64714932-64714932
29 GNS NM_002076.4(GNS):c.*1435G>A SNV Uncertain significance 880957 12:65109086-65109086 12:64715306-64715306
30 GNS NM_002076.4(GNS):c.*71T>C SNV Uncertain significance 881006 12:65110450-65110450 12:64716670-64716670
31 GNS NM_002076.4(GNS):c.1616G>A (p.Arg539His) SNV Uncertain significance 881007 12:65110564-65110564 12:64716784-64716784
32 GNS NM_002076.4(GNS):c.1261C>T (p.Arg421Cys) SNV Uncertain significance 881008 12:65116833-65116833 12:64723053-64723053
33 GNS NM_002076.4(GNS):c.*2844G>A SNV Uncertain significance 882267 12:65107677-65107677 12:64713897-64713897
34 GNS NM_002076.4(GNS):c.*734A>G SNV Uncertain significance 310191 rs886049768 12:65109787-65109787 12:64716007-64716007
35 GNS NM_002076.4(GNS):c.*846C>T SNV Uncertain significance 310188 rs886049765 12:65109675-65109675 12:64715895-64715895
36 GNS NM_002076.4(GNS):c.337A>G (p.Thr113Ala) SNV Uncertain significance 310210 rs886049772 12:65141614-65141614 12:64747834-64747834
37 GNS NM_002076.4(GNS):c.73G>A (p.Ala25Thr) SNV Uncertain significance 310212 rs540537083 12:65152984-65152984 12:64759204-64759204
38 GNS NM_002076.4(GNS):c.*2447G>A SNV Uncertain significance 310174 rs567930294 12:65108074-65108074 12:64714294-64714294
39 GNS NM_002076.4(GNS):c.1104G>T (p.Leu368=) SNV Uncertain significance 882363 12:65122832-65122832 12:64729052-64729052
40 GNS NM_002076.4(GNS):c.939T>G (p.Thr313=) SNV Uncertain significance 882364 12:65133216-65133216 12:64739436-64739436
41 GNS NM_002076.4(GNS):c.876-13T>C SNV Uncertain significance 882365 12:65133292-65133292 12:64739512-64739512
42 GNS NM_002076.4(GNS):c.*2625G>A SNV Uncertain significance 882533 12:65107896-65107896 12:64714116-64714116
43 GNS NM_002076.4(GNS):c.*2612G>T SNV Uncertain significance 882534 12:65107909-65107909 12:64714129-64714129
44 GNS NM_002076.4(GNS):c.*2571T>C SNV Uncertain significance 882535 12:65107950-65107950 12:64714170-64714170
45 GNS NM_002076.4(GNS):c.*2489T>C SNV Uncertain significance 882536 12:65108032-65108032 12:64714252-64714252
46 GNS NM_002076.4(GNS):c.*2406A>G SNV Uncertain significance 882537 12:65108115-65108115 12:64714335-64714335
47 GNS NM_002076.4(GNS):c.*699G>C SNV Uncertain significance 882584 12:65109822-65109822 12:64716042-64716042
48 GNS NM_002076.4(GNS):c.229A>G (p.Met77Val) SNV Uncertain significance 882636 12:65146501-65146501 12:64752721-64752721
49 GNS NM_002076.4(GNS):c.16C>G (p.Leu6Val) SNV Uncertain significance 882637 12:65153041-65153041 12:64759261-64759261
50 GNS NM_002076.4(GNS):c.*2301G>A SNV Uncertain significance 883317 12:65108220-65108220 12:64714440-64714440

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis, Type Iiid:

73
# Symbol AA change Variation ID SNP ID
1 GNS p.Ser94Ile VAR_064070
2 GNS p.Lys340Arg VAR_064072
3 GNS p.Gly418Glu VAR_064073

Expression for Mucopolysaccharidosis, Type Iiid

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Iiid.

Pathways for Mucopolysaccharidosis, Type Iiid

Pathways related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 SUMF1 SGSH NAGLU IDUA IDS HYAL1
2
Show member pathways
12.38 SGSH NAGLU IDUA IDS HYAL1 GNS
3
Show member pathways
12.16 SGSH NAGLU IDUA IDS HYAL1
4 11.43 SUMF1 SGSH NAGLU IDUA IDS HYAL1
5
Show member pathways
10.86 SGSH NAGLU IDUA IDS HYAL1 HGSNAT

GO Terms for Mucopolysaccharidosis, Type Iiid

Cellular components related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.63 SGSH NAGLU IDUA HYAL1 GNS GALNS
2 lysosome GO:0005764 9.61 SGSH NAGLU IDUA IDS HYAL1 HGSNAT
3 lysosomal lumen GO:0043202 9.17 SGSH NAGLU IDUA IDS HYAL1 GNS

Biological processes related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.5 NAGLU IDUA HYAL1
2 glycosaminoglycan metabolic process GO:0030203 9.26 SGSH GNS
3 keratan sulfate catabolic process GO:0042340 9.16 GNS GALNS
4 chondroitin sulfate catabolic process GO:0030207 9.13 IDUA IDS HYAL1
5 glycosaminoglycan catabolic process GO:0006027 9.1 SGSH NAGLU IDUA IDS HGSNAT GNS

Molecular functions related to Mucopolysaccharidosis, Type Iiid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.76 SGSH NAGLU IDUA IDS HYAL1 GNS
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.5 NAGLU IDUA HYAL1
3 catalytic activity GO:0003824 9.43 SGSH IDS HYAL1 GNS GALNS ARSG
4 glycosaminoglycan binding GO:0005539 9.4 SGSH GNS
5 arylsulfatase activity GO:0004065 9.37 GALNS ARSG
6 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.26 SGSH GNS
7 sulfuric ester hydrolase activity GO:0008484 9.02 SGSH IDS GNS GALNS ARSG

Sources for Mucopolysaccharidosis, Type Iiid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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